Canonical Allele Identifier: CA2790314290

Gene: TPP1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6616534A>C , CM000673.2:g.6616534A>C	GRCh38
NC_000011.9:g.6637765A>C , CM000673.1:g.6637765A>C	GRCh37
NC_000011.8:g.6594341A>C	NCBI36
NG_008653.1:g.7928T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.773-31T>G	ENSP00000507321.1:n.773-31T>G
ENST00000299427.12:c.887-31T>G MANE Select	ENSP00000299427.6:n.887-31T>G
ENST00000436873.7:c.313-460T>G
ENST00000524903.2:n.2288T>G
ENST00000530040.2:n.480-31T>G
ENST00000533371.6:c.158-31T>G	ENSP00000437066.1:n.158-31T>G
ENST00000642892.1:c.158-31T>G	ENSP00000494165.1:n.158-31T>G
ENST00000643439.1:c.*627-31T>G	ENSP00000495849.1:n.*627-31T>G
ENST00000643479.1:n.1042T>G
ENST00000643516.1:c.396-31T>G
ENST00000644218.1:c.886+127T>G	ENSP00000493574.1:n.886+127T>G
ENST00000644683.1:c.*340-31T>G	ENSP00000494085.1:n.*340-31T>G
ENST00000644810.1:c.608-31T>G	ENSP00000495895.1:n.608-31T>G
ENST00000644831.1:n.1063-31T>G
ENST00000644933.1:c.158-31T>G	ENSP00000496133.1:n.158-31T>G
ENST00000645285.1:c.157+127T>G	ENSP00000495058.1:n.157+127T>G
ENST00000645331.1:n.1379T>G
ENST00000645620.1:c.158-31T>G	ENSP00000493657.1:n.158-31T>G
ENST00000646777.1:n.1189T>G
ENST00000647016.1:n.1367-31T>G
ENST00000647152.1:c.158-31T>G	ENSP00000495893.1:n.158-31T>G
ENST00000647209.1:c.*756-31T>G	ENSP00000495558.1:n.*756-31T>G
ENST00000647346.1:n.1907-31T>G
ENST00000299427.10:c.887-31T>G	ENSP00000299427.6:n.887-31T>G
ENST00000436873.6:c.451-31T>G	ENSP00000398136.2:n.451-31T>G
ENST00000528807.1:n.563T>G
ENST00000533371.5:c.158-31T>G	ENSP00000437066.1:n.158-31T>G
ENST00000611494.4:c.887-31T>G	ENSP00000484546.1:n.887-31T>G
NM_000391.3:c.887-31T>G	NP_000382.3:n.887-31T>G
NM_000391.4:c.887-31T>G MANE Select	NP_000382.3:n.887-31T>G